Variant report

Variant	nsv945335
Chromosome Location	chr1:227618159-227618832
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr1:227618206-227618328	K562	blood:	n/a	n/a
2	GATA3	chr1:227618618-227619013	T-47D	breast:	n/a	chr1:227618893-227618900 chr1:227618893-227618900 chr1:227618741-227618749 chr1:227618893-227618900
3	JUN	chr1:227616900-227618269	K562	blood:	n/a	n/a
4	POLR2A	chr1:227615435-227618163	HUVEC	blood vessel:	n/a	n/a
5	RCOR1	chr1:227617113-227618192	K562	blood:	n/a	n/a
6	ZNF384	chr1:227618633-227618960	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:227504042..227507688-chr1:227616722..227620233,4	K562	blood:
2	chr1:227616535..227618369-chr1:227618757..227620375,2	MCF-7	breast:
3	chr1:227615748..227618335-chr1:227618739..227621470,2	MCF-7	breast:
4	chr1:227506036..227507932-chr1:227615818..227619997,3	MCF-7	breast:
5	chr1:227421745..227423708-chr1:227616261..227618228,2	MCF-7	breast:
6	chr1:227505302..227507077-chr1:227617949..227620450,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF678-1	chr1:227617106-227618736	ENSG00000234277.2

No data

Variant related genes	Relation type
BTF3P9	TF binding region
ENSG00000242757	TF binding region
ENSG00000228729	chromatin interactions
ENSG00000143776	chromatin interactions
ENSG00000242757	chromatin interactions

Extended variants
information (count: 26 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143860914	chr1:227618177-227618178	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
2	rs371444329	chr1:227618180-227618181	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
3	rs143739720	chr1:227618209-227618210	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
4	rs12563091	chr1:227618239-227618240	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs41304006	chr1:227618248-227618249	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs140531650	chr1:227618266-227618267	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
7	rs372697536	chr1:227618286-227618287	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
8	rs573227425	chr1:227618294-227618295	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
9	rs144443528	chr1:227618297-227618298	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
10	rs556332687	chr1:227618337-227618338	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs555928858	chr1:227618339-227618340	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs574071351	chr1:227618345-227618346	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs190046595	chr1:227618397-227618398	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs377167535	chr1:227618418-227618419	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs6426453	chr1:227618420-227618421	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs368751518	chr1:227618448-227618449	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs374779501	chr1:227618454-227618455	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs544844983	chr1:227618545-227618546	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs6667621	chr1:227618550-227618551	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs182294462	chr1:227618592-227618593	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs145559119	chr1:227618593-227618594	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs542693039	chr1:227618660-227618661	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
23	rs560691594	chr1:227618672-227618673	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
24	rs12125212	chr1:227618683-227618684	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs71180749	chr1:227618721-227618722	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
26	rs184975256	chr1:227618777-227618778	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227615200-227619400	Enhancers	Brain Hippocampus Middle	brain
2	chr1:227615200-227619600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:227615200-227621000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr1:227615400-227619400	Enhancers	Brain Anterior Caudate	brain
5	chr1:227615400-227623400	Enhancers	Brain Cingulate Gyrus	brain
6	chr1:227615600-227621000	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr1:227616000-227618200	Flanking Active TSS	HUVEC	blood vessel
8	chr1:227616000-227618400	Bivalent Enhancer	HepG2	liver
9	chr1:227616000-227618800	Enhancers	Brain Angular Gyrus	brain
10	chr1:227616000-227619200	Enhancers	Brain Substantia Nigra	brain
11	chr1:227616000-227622200	Enhancers	Fetal Muscle Leg	muscle
12	chr1:227616200-227618200	Enhancers	Small Intestine	intestine
13	chr1:227616200-227618200	Enhancers	Stomach Mucosa	stomach
14	chr1:227616200-227619400	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr1:227616200-227619800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr1:227616200-227620000	Enhancers	Fetal Muscle Trunk	muscle
17	chr1:227616400-227618200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:227616400-227618200	Enhancers	NHLF	lung
19	chr1:227616400-227618400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:227616400-227618400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:227616400-227618400	Enhancers	Right Atrium	heart
22	chr1:227616400-227618600	Enhancers	Left Ventricle	heart
23	chr1:227616400-227618600	Enhancers	NH-A	brain
24	chr1:227616400-227618800	Enhancers	Placenta	Placenta
25	chr1:227616400-227620000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr1:227616400-227621000	Enhancers	Lung	lung
27	chr1:227616600-227619400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr1:227616600-227619400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr1:227616600-227625200	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr1:227616800-227619400	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr1:227616800-227619400	Weak transcription	Hela-S3	cervix
32	chr1:227617200-227618200	Flanking Active TSS	K562	blood
33	chr1:227617200-227619400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:227617400-227619200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr1:227617400-227619200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:227617400-227619600	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr1:227617400-227620800	Weak transcription	Spleen	Spleen
38	chr1:227617400-227625200	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr1:227617600-227618200	Flanking Active TSS	HSMMtube	muscle
40	chr1:227617600-227618800	Enhancers	HSMM	muscle
41	chr1:227617600-227619000	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr1:227617600-227619200	Weak transcription	Right Ventricle	heart
43	chr1:227617600-227619400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:227617600-227619400	Weak transcription	Gastric	stomach
45	chr1:227617600-227619400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr1:227617600-227619600	Weak transcription	Pancreas	Pancrea
47	chr1:227617600-227621400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr1:227617600-227624000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr1:227617600-227624400	Weak transcription	Fetal Lung	lung
50	chr1:227617600-227625200	Weak transcription	Primary hematopoietic stem cells	blood

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